For patients with classic Fabry's disease, enzyme replacement appears efficacious.29,30 For patients with the cardiac variant whose residual alpha-galactosidase A activity can be enhanced in vitro, chaperone-mediated therapy with galactose or other inhibitors may prove safe and therapeutically effective, as in our patient. Patients with unexplained left ventricular hypertrophy or hypertrophic nonobstructive cardiomyopathy should be evaluated for [W.
CITATION STYLE
Frustaci, A., Chimenti, C., Ricci, R., Natale, L., Russo, M. A., Pieroni, M., … Desnick, R. J. (2001). Improvement in Cardiac Function in the Cardiac Variant of Fabry’s Disease with Galactose-Infusion Therapy. New England Journal of Medicine, 345(1), 25–32. https://doi.org/10.1056/nejm200107053450104
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